In brief

Suffers extreme pain and can dislocate joints half a dozen times a day

Was forced to give up work two years ago and use a wheelchair

A grandmother who could be ‘internally decapitated’ if she moves her neck too suddenly is desperately trying to raise funds to have life-saving surgery.

Karen Scott suffers with a debilitating genetic condition which means the weight of her skull is slowly crushing her spine.

The 51-year-old fears she could be paralysed or die without the £100,000 operation which she’s been told will not be funded by the NHS.

The mother-of-two was diagnosed with Ehlers Danlos syndrome (EDS), a connective tissue disorder, just last year, despite having had it since birth.

Her condition has now deteriorated and she’s developed craniocervical instability (CCI), which means the muscles in her neck are too weak to support her head.

Karen Scott, pictured with her son, says on a scale of one to 10, her pain is a 10 (Photo: Karen Scott)

“I’ve been told if I move my neck too suddenly I could internally decapitate myself”

Karen Scott

Karen told i: “It feels as if my neck is a paper straw and my head is a bowling ball and I’m two inches shorter than I once was due to spinal issues.

“There is no neurosurgeon in the UK able to perform this operation on those with EDS. I feel let down by the NHS when I need it the most.

“For every day that goes by, the risk of this paralysing me or worse increases.”

Pain and fatigue

Karen, from Hartfield in East Sussex, remembers noticing she was double-jointed as a child. “I studied dance at school and could bend my limbs back and do all kinds of tricks. It didn’t hurt then.”

It was when she was 17 and she injured herself skiing and her knee would keep popping out of place that she suspected something wasn’t right.

And after suffering a gastro infection at 23, further health problems emerged including migraines, extreme fatigue, muscle and join pain and bowel problems.

Karen recalls that when she was pregnant with her daughter at age 29, her condition got worse. “I thought it was just the position of the baby at first but all my lower body hurt.

The mother-of-two reduced her working hours to three days a week in a bid to keep in employment but had to give her job up two years ago (Photo: Karen Scott)

“I kept getting shooting pains in my legs that have never gone away.”

At 32 Karen suffered a stroke due to an unrelated heart condition and at 36 she was diagnosed with chronic fatigue syndrome (CFS), also known as myalgic encephalomyelitis (ME).

“I think because I’ve had multiple health problems it’s taken me longer that most people to get diagnosed with ED,” she said. “The doctor told me he hadn’t diagnosed anyone in their 50s with it, because either by then they have long known they have it or they aren’t alive anymore.”

What is Ehlers-Danlos syndrome?

EDS is a group of rare inherited conditions that affect connective tissue, which provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.

There are several types of EDS that may share some symptoms, including an increased range of joint movement (joint hypermobility), stretchy skin and fragile skin that breaks or bruises easily.

“I can put my finger out just by flushing the toilet,” she said. “The pain is constant now and I’m on a lot of pain killers but they barely have any impact.”

Roughly one in 15 people develop CCI as a result of having EDS, due to the lack of tissue support at the craniocervical junction.

“The worst thing is I’ve been told if I move my neck too suddenly I could internally decapitate myself,” she explained. “It’s frightening that I’ve had this all my life and only knew about it last year when it’s become so much worse.”

No funding

Karen said she was told by her doctor that there isn’t a specialist on the NHS who can treat EDS, so she needed to seek private treatment.

She has visited Dr Vicenç Gilete in Barcelona, who is thought to be one of only three surgeons in the world capable of performing the complex surgery she needs.

He has advised her she needs the operation to stablise her neck urgently, otherwise the damage from the diseases will become irreversible. She is booked in for the surgery in May. She has to pay for it in full by April.

She says that despite the constant pain she is in, she is trying to keep positive (Photo: Karen Scott)

“It’s a very specialised procedure so I can understand there being no-one in the UK being able to carry it out,” said Karen. “But I don’t get why the NHS can’t provide the funding for me to have it abroad. I’ve tried my best to work through illness and I’ve paid my taxes.

“It doesn’t come naturally for me to have to ask for help for myself. I worry about whether anyone will want to help a 51-year-old lady rather than a younger person which I appreciate is more emotive, but I am not exactly old.

“I want to live and watch my two-year-old granddaughter grow up and to spend time with my children and my wonderful husband. They all need me.”

An NHS England spokesperson said: “Despite the rarity of Ehlers Danlos syndrome the NHS does fund surgery when it is recommended by clinicians.

“However, the decision to undertake such complex procedures has to be based on whether the benefits to the individual patient outweigh the risks.”

We know that sometimes it’s easier for us to come to you with the news. That's why our new email newsletter will deliver a mobile-friendly snapshot of inews.co.uk to your inbox every morning, from Monday to Saturday.

This will feature the stories you need to know, as well as a curated selection of the best reads from across the site. Of course, you can easily opt out at any time, but we're confident that you won't.

Oliver Duff, Editor

By entering your email address and clicking on the sign up button below, you are agreeing to receive the latest daily news, news features and service updates from the i via email. You can unsubscribe at any time and we will not pass on your information.